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Skin fragility-woolly hair-palmoplantar keratoderma syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
No signs/symptoms info
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

DSP
(UniProt - OMIM)
 WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DSP
(0.63)
WWOX


Citations in the biomedical literature:


Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX



Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

Synonym(s):
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.